MELAS syndrome associated with a new mitochondrial tRNA-Val gene mutation (m.1616A>G).

Abstract

We describe the case of a 40-year-old-man with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, with cardiomyopathy and severe heart failure. He had a mitochondrial transfer RNA (tRNA) mutation (m.1616A>G) of the (tRNA-Val) gene, and it was not found in MELAS syndrome ever before. The presence of this newly observed tRNA-Val mutation (m.1616A>G) may induce multiple respiratory chain enzyme deficiencies and contribute to MELAS syndrome symptoms that are associated with mitochondrial DNA (mtDNA) mutations. We report that the pathognomonic symptom in MELAS syndrome caused by this newly observed mtDNA mutation may be rapid progression of cardiomyopathy and severe heart failure.

• Authors: Yuka Toyoshima, Yuji Tanaka, Kazuo Satomi
• Journal: BMJ case reports (BMJ Case Rep) Vol. 2017 (Sep 11 2017) ISSN: 1757-790X [Electronic] England
• PMID: 28893805 (Publication Type: Case Reports, Journal Article)
• Copyright: © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Chemical References

• DNA, Mitochondrial
• RNA, Transfer, Val

Topics

• Adult
• Asian People (genetics)
• Cardiomyopathies (complications, genetics)
• DNA, Mitochondrial (genetics)
• Diagnosis, Differential
• Disease Progression
• Fatal Outcome
• Heart Failure (complications, genetics)
• Humans
• MELAS Syndrome (diagnosis, genetics, pathology)
• Male
• Mitochondrial Diseases (enzymology, genetics)
• Mutation
• RNA, Transfer, Val (genetics)